Thomsen disease
From Wikipedia, the free encyclopedia
| ICD-10 | G71.1 |
|---|---|
| ICD-9 | 359.2 |
| OMIM | 160800 |
| DiseasesDB | 8736 |
| MeSH | D009224 |
Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction. The affected muscle functions normally after a few repetitions.
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[edit] Causes
It is associated with mutations in the chloride channel gene CLCN1.
[edit] Presentation
The disorder only affects voluntary muscles, so involuntary muscles such as the heart or muscles involved in the digestion process are not affected.
[edit] Treatment and prognosis
There is no known cure but some drugs may relieve symptoms. These include: Dilantin, Procainamide and Mexiletine.
The disease is not fatal.
[edit] History
Julius Thomsen, a Danish physician, was the first to describe the disease, citing symptoms of his own family members.
[edit] External links
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